Variant report

Variant	rs73191771
Chromosome Location	chr3:121139955-121139956
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:121135285..121138210-chr3:121139443..121141521,3	K562	blood:
2	chr3:121134688..121138349-chr3:121139086..121141700,5	K562	blood:
3	chr3:121138259..121140292-chr3:121185745..121188174,2	K562	blood:

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10212489	1.00[ASN][1000 genomes]
rs11555758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3218647	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35766343	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36065146	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41541714	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41544013	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41551812	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41561919	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61427766	1.00[ASN][1000 genomes]
rs73179904	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73179909	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73179919	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73179920	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73179926	1.00[ASN][1000 genomes]
rs73179927	1.00[ASN][1000 genomes]
rs73179928	1.00[ASN][1000 genomes]
rs73179930	1.00[ASN][1000 genomes]
rs73179936	1.00[ASN][1000 genomes]
rs73183126	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183129	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183132	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183143	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183147	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183148	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183167	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183171	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183176	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183177	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183178	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183179	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73191432	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73191436	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73191437	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73191438	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73191442	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73191443	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73191445	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73191446	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73191447	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73191450	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73191455	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73191458	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73191460	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73191462	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73191463	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73191757	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73191760	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73191764	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73191766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73191769	1.00[ASN][1000 genomes]
rs73191770	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73191774	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73191784	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73191785	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73191786	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73191787	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73191789	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73191794	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73191798	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73191799	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73191802	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193605	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193614	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193615	0.85[EUR][1000 genomes]
rs73193618	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193620	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193621	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193622	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193625	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193627	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193629	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193633	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193639	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193640	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9829579	1.00[ASN][1000 genomes]
rs9862879	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998555	chr3:120700604-121348015	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
2	nsv521397	chr3:120970900-121192350	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv591395	chr3:120970900-121501070	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv591396	chr3:120970900-121557533	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv591397	chr3:120977383-121505882	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv829702	chr3:121045793-121227975	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv591398	chr3:121046468-121154193	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv591399	chr3:121046468-121160369	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv591400	chr3:121070299-121339354	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv591401	chr3:121094592-121160369	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv999335	chr3:121100283-121408766	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121129200-121148800	Weak transcription	GM12878-XiMat	blood
2	chr3:121134200-121152600	Weak transcription	Hela-S3	cervix
3	chr3:121134600-121146400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr3:121135400-121141200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr3:121135800-121148600	Weak transcription	Thymus	Thymus
6	chr3:121135800-121149000	Weak transcription	A549	lung
7	chr3:121137400-121142200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:121137600-121145800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr3:121137800-121148800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr3:121139000-121145800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr3:121139200-121150600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr3:121139200-121186000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:121139400-121147400	Weak transcription	H9 Cell Line	embryonic stem cell

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